CFTR L88Shift - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

CFTR L88Shift

(CFTR 88delLinsShift)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

I believe this refers to the following variant:

https://www.ncbi.nlm.nih.gov/snp/rs121908769#clinical_significance

https://www.cftr2.org/mutation/general/394delTT/

If that is true, the status should be changed

Allele frequency

  • None available.

Publications
 

301 Moved Permanently

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PubMed PMID: 7509310

 

301 Moved Permanently

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PubMed PMID: 8707306

 

301 Moved Permanently

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PubMed PMID: 15371903

 

301 Moved Permanently

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PubMed PMID: 23974870

 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the CFTR gene
    CFTR-Related Disorders
    CFTR-Related Hereditary Pancreatitis
    Hereditary Pancreatitis
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CFTR

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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